Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN10A gene for Episodic pain syndrome type 2, familial

PreTest Information

Clinical History of Patient who is going for SCN10A Gene Episodic pain syndrome type 2, familial NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN10A Gene Episodic pain syndrome type 2, familial

Detail Description

SCN10A Gene Episodic Pain Syndrome Type 2: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Episodic pain syndrome type 2, familial (EPF2) is a rare genetic disorder that affects the SCN10A gene. This gene provides instructions for making a protein that helps control the activity of nerve cells. People with EPF2 experience episodes of intense pain that can last from a few minutes to several hours. The pain is often triggered by mild stimuli such as touching or pressure, and can occur in any part of the body.

Symptoms of EPF2

The symptoms of EPF2 are characterized by recurrent episodes of pain that can be triggered by various stimuli including:

• Physical contact
• Changes in temperature
• Exercise
• Stress
• Emotional triggers

These episodes of pain are usually brief, lasting only a few minutes to several hours. The pain can be mild to severe and can occur in any part of the body. In some cases, the pain is accompanied by other symptoms such as sweating, flushing, or changes in blood pressure and heart rate.

Diagnosis of EPF2

Diagnosis of EPF2 is based on a combination of clinical symptoms, family history, and genetic testing. A doctor will take a detailed medical history and perform a physical examination to rule out other causes of episodic pain. They may also order blood tests and imaging studies such as X-rays or MRI to rule out other conditions.

If EPF2 is suspected, genetic testing can be performed to confirm the diagnosis. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes at once, allowing for a more comprehensive analysis of the genetic causes of EPF2. NGS genetic DNA tests can be performed on a blood or saliva sample and can identify mutations in the SCN10A gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for EPF2 in India is approximately INR 20,000. This test is not covered by insurance, and patients will need to pay out of pocket for the test.

Conclusion

EPF2 is a rare genetic disorder that causes recurrent episodes of intense pain. Diagnosis of EPF2 is based on clinical symptoms, family history, and genetic testing. NGS genetic DNA testing is a powerful tool for identifying mutations in the SCN10A gene and confirming the diagnosis of EPF2. The cost of NGS genetic DNA testing for EPF2 in India is approximately INR 20,000.

If you or a loved one is experiencing recurrent episodes of pain, speak to your doctor about the possibility of EPF2 and the availability of genetic testing.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SCN10A Gene Episodic pain syndrome type 2, familial NGS Genetic DNA Test